WS1
MCID: WRD030
MIFTS: 58

Waardenburg Syndrome, Type 1 (WS1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Waardenburg Syndrome, Type 1

MalaCards integrated aliases for Waardenburg Syndrome, Type 1:

Name: Waardenburg Syndrome, Type 1 58 13 41
Waardenburg Syndrome Type 1 12 77 54 60 30 6 15 74
Ws1 58 12 54 60 76
Waardenburg Syndrome Type I 12 25 60
Waardenburg Syndrome with Dystopia Canthorum 58
Waardenburg's Syndrome Type 1 54
Waardenburg Syndrome, Type I 56
Waardenburg Syndrome 1 76
Waardenburg Syndrome 45

Characteristics:

Orphanet epidemiological data:

60
waardenburg syndrome type 1
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability seen in waardenburg syndrome type 1
other variants of waardenburg syndrome include waardenburg syndrome type 2 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

33
waardenburg syndrome, type 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 1

Genetics Home Reference : 26 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

MalaCards based summary : Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to waardenburg syndrome, type 4a and waardenburg syndrome type 4. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Regulation of retinoblastoma protein and Neural Crest Differentiation. The drugs Histamine and Loratadine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and kidney, and related phenotypes are mandibular prognathia and short nose

Disease Ontology : 12 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has material basis in heterozygous mutation in the PAX3 gene on chromosome 2q36.

NIH Rare Diseases : 54 Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenitalhearing loss, and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.

OMIM : 58 Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). (193500)

UniProtKB/Swiss-Prot : 76 Waardenburg syndrome 1: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.

Wikipedia : 77 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

GeneReviews:

Related Diseases for Waardenburg Syndrome, Type 1

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4a 33.8 EDN3 EDNRB MITF SOX10
2 waardenburg syndrome type 4 33.6 EDN3 EDNRB MITF SOX10
3 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 33.0 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
4 albinism, ocular, with late-onset sensorineural deafness 32.3 MITF SOX10
5 piebald trait 32.0 MITF PAX3 SNAI2
6 waardenburg syndrome, type 3 31.5 EDN3 MITF PAX3 SOX10
7 waardenburg syndrome, type 2e 31.2 EDNRB MITF SNAI2 SOX10
8 waardenburg syndrome, type 4b 30.7 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
9 waardenburg syndrome, type 2a 30.4 EDN3 EDNRB GJB2 MITF SNAI2 SOX10
10 wolfram syndrome 30.2 CISD2 WFS1
11 tietz albinism-deafness syndrome 30.2 MITF PAX3 SOX10
12 megacolon 30.1 EDN3 EDNRB SOX10
13 waardenburg's syndrome 29.6 EDN3 EDNRB GJB2 MITF PAX3 SNAI2
14 hirschsprung disease 1 29.5 EDN3 EDNRB MITF PAX3 SOX10
15 albinism, ocular, with sensorineural deafness 11.9
16 albinism, oculocutaneous, type ib 11.4
17 waardenburg syndrome, type 2d 11.2
18 craniofacial-deafness-hand syndrome 11.0
19 waardenburg syndrome, type 2b 11.0
20 waardenburg syndrome, type 2c 11.0
21 waardenburg syndrome, type 4c 11.0
22 microphthalmia with limb anomalies 11.0
23 anophthalmos with limb anomalies 11.0
24 malignant spindle cell melanoma 10.3 MITF SOX10
25 breast angiosarcoma 10.3 MITF SOX10
26 childhood kidney cell carcinoma 10.3 MITF PAX3
27 septooptic dysplasia 10.2
28 microphthalmia 10.2
29 hermansky-pudlak syndrome 1 10.2 PAX3 SOX10
30 cellular schwannoma 10.2 PAX3 SOX10
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
32 neurofibroma 10.2 MITF SOX10
33 mutism 10.2 GJB2 MITF
34 goldberg-shprintzen syndrome 10.2 EDN3 EDNRB
35 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB2 MITF
36 fryns microphthalmia syndrome 10.1
37 myelomeningocele 10.1
38 intestinal pseudo-obstruction 10.1 EDNRB SOX10
39 albinism, oculocutaneous, type iv 10.1 GJB2 MITF
40 neural tube defects 10.1
41 cholesteatoma of middle ear 10.1
42 neuropathy 10.1
43 albinism 10.1
44 wolfram syndrome 2 10.1 CISD2 WFS1
45 colonic disease 10.1 EDN3 EDNRB SOX10
46 deafness, autosomal dominant 2a 10.0 GJB2 WFS1
47 deafness, autosomal recessive 16 10.0 GJB2 WFS1
48 intestinal obstruction 10.0 EDN3 EDNRB
49 chromosome 2q35 duplication syndrome 10.0
50 microvascular complications of diabetes 5 10.0

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 1:



Diseases related to Waardenburg Syndrome, Type 1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 1

Human phenotypes related to Waardenburg Syndrome, Type 1:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
2 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
3 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
4 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
5 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
6 telecanthus 60 33 frequent (33%) Very frequent (99-80%) HP:0000506
7 heterochromia iridis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001100
8 premature graying of hair 60 33 hallmark (90%) Frequent (79-30%) HP:0002216
9 lacrimation abnormality 60 33 frequent (33%) Very frequent (99-80%) HP:0000632
10 white forelock 60 33 frequent (33%) Very frequent (99-80%) HP:0002211
11 white hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0011364
12 synophrys 60 33 hallmark (90%) Frequent (79-30%) HP:0000664
13 white eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002226
14 white eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0002227
15 congenital sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008527
16 abnormal facial shape 33 hallmark (90%) HP:0001999
17 prominent nasal bridge 33 hallmark (90%) HP:0000426
18 conductive hearing impairment 33 hallmark (90%) HP:0000405
19 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
20 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
21 tented upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0010804
22 abnormal lip morphology 33 frequent (33%) HP:0000159
23 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
24 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
25 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
26 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
27 sprengel anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000912
28 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
29 meningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002435
30 cleft upper lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000204
31 intestinal obstruction 33 occasional (7.5%) HP:0005214
32 abnormality of the uterus 33 occasional (7.5%) HP:0000130
33 oral cleft 33 occasional (7.5%) HP:0000202
34 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
35 myelomeningocele 33 occasional (7.5%) HP:0002475
36 aplasia/hypoplasia of the colon 33 occasional (7.5%) HP:0100811
37 abnormal vagina morphology 33 occasional (7.5%) HP:0000142
38 spina bifida 60 33 Occasional (29-5%) HP:0002414
39 hypertelorism 33 HP:0000316
40 hearing impairment 60 Very frequent (99-80%)
41 smooth philtrum 33 HP:0000319
42 abnormality of the eye 60 Very frequent (99-80%)
43 malformation of the heart and great vessels 60 Occasional (29-5%)
44 hypopigmentation of hair 60 Very frequent (99-80%)
45 blue irides 33 HP:0000635
46 blepharophimosis 33 HP:0000581
47 hypopigmentation of the fundus 33 HP:0007894
48 abnormality of the hair 60 Frequent (79-30%)
49 supernumerary ribs 33 HP:0005815
50 partial albinism 33 HP:0007443

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
blepharophimosis
synophrys
laterally displaced inner canthi (dystopia canthorum) (95 to 99%)
increased intercanthal distance
more
Head And Neck Face:
smooth philtrum
decreased philtrum length

Skin Nails Hair Hair:
premature graying of hair
white forelock
bushy eyebrows
white eyelashes and eyebrows

Head And Neck Mouth:
cleft lip/palate
mandibular prognathism

Head And Neck Ears:
congenital sensorineural deafness

Genitourinary Internal Genitalia Female:
absent uterine adnexa (rare)

Neurologic Central Nervous System:
spina bifida (less common)
myelomeningocele (less common)

Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi
broad, high nasal root
decreased nasal bone length

Skeletal Spine:
sprengel anomaly
supernumerary vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
supernumerary ribs

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs
hypopigmented skin lesions

Genitourinary External Genitalia Female:
absent vagina (rare)

Skeletal Skull:
aplasia of posterior semicircular canal on ct scan

Clinical features from OMIM:

193500

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 1:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 CISD2 EDN3 EDNRB MITF PAX3 SNAI2
2 digestive/alimentary MP:0005381 10.13 CISD2 EDN3 EDNRB EYA4 PAX3 SNAI2
3 growth/size/body region MP:0005378 10.13 CISD2 EDNRB EYA4 GJB2 MITF PAX3
4 embryo MP:0005380 10.11 EDN3 EDNRB EYA4 GJB2 MITF PAX3
5 endocrine/exocrine gland MP:0005379 10.1 CISD2 EDNRB EYA4 MITF PAX3 SNAI2
6 homeostasis/metabolism MP:0005376 10.09 CISD2 EDNRB EYA4 GJB2 MITF PAX3
7 craniofacial MP:0005382 10.08 CISD2 EDNRB EYA4 GJB2 MITF PAX3
8 integument MP:0010771 10.06 CISD2 EDN3 EDNRB GJB2 MITF PAX3
9 mortality/aging MP:0010768 10.02 CISD2 EDN3 EDNRB EYA4 GJB2 MITF
10 hearing/vestibular/ear MP:0005377 9.93 CISD2 EDNRB EYA4 GJB2 MITF PAX3
11 nervous system MP:0003631 9.86 CISD2 EDN3 EDNRB GJB2 MITF PAX3
12 limbs/digits/tail MP:0005371 9.77 EDNRB GJB2 MITF PAX3 SOX10
13 pigmentation MP:0001186 9.7 CISD2 EDN3 EDNRB MITF PAX3 SNAI2
14 skeleton MP:0005390 9.43 CISD2 EDNRB GJB2 MITF PAX3 SNAI2
15 vision/eye MP:0005391 9.1 CISD2 EDNRB GJB2 MITF PAX3 SNAI2

Drugs & Therapeutics for Waardenburg Syndrome, Type 1

Drugs for Waardenburg Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Not Applicable 51-45-6 774
2
Loratadine Approved, Investigational Not Applicable 79794-75-5 3957
3
Imipramine Approved Not Applicable 50-49-7 3696
4
Ephedrine Approved Not Applicable 299-42-3 9294
5
Pseudoephedrine Approved Not Applicable 90-82-4 7028
6
Warfarin Approved 81-81-2 54678486 6691
7 Antipsychotic Agents Not Applicable
8 Histamine H1 Antagonists Not Applicable
9 Quetiapine Fumarate Not Applicable 111974-72-2
10 Antidepressive Agents Not Applicable
11 Antidepressive Agents, Tricyclic Not Applicable
12 Histamine Antagonists Not Applicable
13 Neurotransmitter Agents Not Applicable
14
Histamine Phosphate Not Applicable 51-74-1 65513
15 Antipruritics Not Applicable
16 Anti-Allergic Agents Not Applicable
17 Dermatologic Agents Not Applicable
18 Histamine H1 Antagonists, Non-Sedating Not Applicable
19 Platelet Aggregation Inhibitors
20 Anticoagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness of Qufeng Shengshi Fang on Treatment of Allergic Rhinitis. Unknown status NCT02653339 Not Applicable Qufeng Shengshi Fang and Loratadine;Loratadine
2 Ongoing WARfarin and Coronary STENTing Unknown status NCT00722319
3 Diversity Analysis of Vaginal Microbiota on Women With High-risk Human Papillomavirus Infection Recruiting NCT03548740

Search NIH Clinical Center for Waardenburg Syndrome, Type 1

Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg Syndrome, Type 1

Genetic tests related to Waardenburg Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 1 30 PAX3

Anatomical Context for Waardenburg Syndrome, Type 1

MalaCards organs/tissues related to Waardenburg Syndrome, Type 1:

42
Eye, Skin, Kidney, Colon, Uterus, Tongue

Publications for Waardenburg Syndrome, Type 1

Articles related to Waardenburg Syndrome, Type 1:

(show all 35)
# Title Authors Year
1
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. ( 28502583 )
2018
2
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. ( 30314436 )
2018
3
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. ( 29224756 )
2017
4
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1. ( 27081571 )
2016
5
Multiple hyperpigmented patches in Waardenburg syndrome type 1: An unusual presentation. ( 27549871 )
2016
6
WAARDENBURG SYNDROME TYPE 1 AND A RARE FINDING OF ANAL ATRESIA. ( 26852521 )
2015
7
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. ( 24651602 )
2014
8
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. ( 23378733 )
2013
9
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. ( 21965087 )
2012
10
Waardenburg Syndrome type 1: A case report. ( 22136859 )
2011
11
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. ( 20664692 )
2010
12
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. ( 20478267 )
2010
13
Waardenburg syndrome type 1. ( 16638435 )
2006
14
[Clinical and molecular genetic investigation of Waardenburg syndrome type 1]. ( 12666593 )
2003
15
Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. ( 9438657 )
1997
16
Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. ( 9017978 )
1997
17
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. ( 9067759 )
1997
18
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). ( 9192262 )
1997
19
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. ( 7897628 )
1995
20
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. ( 7825605 )
1995
21
Analysis of variability of clinical manifestations in Waardenburg syndrome. ( 7573125 )
1995
22
Homozygosity for Waardenburg syndrome. ( 7726174 )
1995
23
The mutational spectrum in Waardenburg syndrome. ( 8589691 )
1995
24
A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1). ( 7833953 )
1994
25
Waardenburg syndrome and myelomeningocele in a family. ( 8423616 )
1993
26
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). ( 8447316 )
1993
27
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. ( 7902163 )
1993
28
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. ( 8490648 )
1993
29
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. ( 1347148 )
1992
30
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. ( 1347149 )
1992
31
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. ( 1303193 )
1992
32
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. ( 1303254 )
1992
33
Waardenburg syndrome associated with meningomyelocele. ( 1308353 )
1992
34
Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. ( 1887852 )
1991
35
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). ( 2785681 )
1989

Variations for Waardenburg Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 1:

76 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Phe45Leu VAR_003790
2 PAX3 p.Pro50Leu VAR_003793 rs104893650
3 PAX3 p.Arg56Leu VAR_003794 rs267606931
4 PAX3 p.Ile59Phe VAR_003795
5 PAX3 p.Ile59Asn VAR_003796
6 PAX3 p.Val60Met VAR_003797
7 PAX3 p.Met62Val VAR_003798
8 PAX3 p.Gly81Ala VAR_003800 rs587776586
9 PAX3 p.Lys85Glu VAR_003802
10 PAX3 p.Gly99Asp VAR_003803 rs118946342
11 PAX3 p.Phe238Ser VAR_003804
12 PAX3 p.Val265Phe VAR_003805
13 PAX3 p.Arg271Gly VAR_003806
14 PAX3 p.Arg270Cys VAR_013619 rs122859019
15 PAX3 p.Ser73Leu VAR_013640
16 PAX3 p.Gln391His VAR_013641
17 PAX3 p.Gly48Arg VAR_017533
18 PAX3 p.Val78Met VAR_017534
19 PAX3 p.Trp266Cys VAR_017536
20 PAX3 p.Arg271Cys VAR_017537 rs138085878
21 PAX3 p.Arg271His VAR_017538 rs774528745
22 PAX3 p.His80Asp VAR_079619 rs387906947
23 PAX3 p.Leu234Pro VAR_079621

ClinVar genetic disease variations for Waardenburg Syndrome, Type 1:

6 (show top 50) (show all 553)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX3 NM_181457.3(PAX3): c.185_202delTGGCCCACCACGGCATCC (p.Met62_Ile67del) deletion Pathogenic GRCh37 Chromosome 2, 223161816: 223161833
2 PAX3 NM_181457.3(PAX3): c.185_202delTGGCCCACCACGGCATCC (p.Met62_Ile67del) deletion Pathogenic GRCh38 Chromosome 2, 222297097: 222297114
3 PAX3 NM_181457.3(PAX3): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs104893650 GRCh37 Chromosome 2, 223161869: 223161869
4 PAX3 NM_181457.3(PAX3): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs104893650 GRCh38 Chromosome 2, 222297150: 222297150
5 PAX3 NM_181457.3(PAX3): c.268_281delTACCAGGAGACTGG (p.Tyr90Leufs) deletion Pathogenic GRCh37 Chromosome 2, 223161737: 223161750
6 PAX3 NM_181457.3(PAX3): c.268_281delTACCAGGAGACTGG (p.Tyr90Leufs) deletion Pathogenic GRCh38 Chromosome 2, 222297018: 222297031
7 PAX3 PAX3, 1-BP DEL deletion Pathogenic
8 PAX3 NM_181457.3(PAX3): c.558_559delCA (p.His186Glnfs) deletion Pathogenic GRCh37 Chromosome 2, 223158913: 223158914
9 PAX3 NM_181457.3(PAX3): c.558_559delCA (p.His186Glnfs) deletion Pathogenic GRCh38 Chromosome 2, 222294194: 222294195
10 PAX3 NM_181457.3(PAX3): c.242G> C (p.Gly81Ala) single nucleotide variant Pathogenic rs587776586 GRCh37 Chromosome 2, 223161776: 223161776
11 PAX3 NM_181457.3(PAX3): c.242G> C (p.Gly81Ala) single nucleotide variant Pathogenic rs587776586 GRCh38 Chromosome 2, 222297057: 222297057
12 PAX3 NM_181457.3(PAX3): c.365_369delAAAGA (p.Lys122Argfs) deletion Pathogenic GRCh38 Chromosome 2, 222295610: 222295614
13 PAX3 NM_181457.3(PAX3): c.365_369delAAAGA (p.Lys122Argfs) deletion Pathogenic GRCh37 Chromosome 2, 223160329: 223160333
14 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh37 Chromosome 2, 223161767: 223161767
15 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh38 Chromosome 2, 222297048: 222297048
16 PAX3 NM_181457.3(PAX3): c.167G> T (p.Arg56Leu) single nucleotide variant Pathogenic rs267606931 GRCh37 Chromosome 2, 223161851: 223161851
17 PAX3 NM_181457.3(PAX3): c.167G> T (p.Arg56Leu) single nucleotide variant Pathogenic rs267606931 GRCh38 Chromosome 2, 222297132: 222297132
18 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh37 Chromosome 13, 78492540: 78492540
19 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh38 Chromosome 13, 77918405: 77918405
20 PAX3 NM_181457.3(PAX3): c.238C> G (p.His80Asp) single nucleotide variant Pathogenic rs387906947 GRCh37 Chromosome 2, 223161780: 223161780
21 PAX3 NM_181457.3(PAX3): c.238C> G (p.His80Asp) single nucleotide variant Pathogenic rs387906947 GRCh38 Chromosome 2, 222297061: 222297061
22 PAX3 NM_181457.3(PAX3): c.556delC (p.His186Thrfs) deletion Pathogenic GRCh37 Chromosome 2, 223158916: 223158916
23 PAX3 NM_181457.3(PAX3): c.556delC (p.His186Thrfs) deletion Pathogenic GRCh38 Chromosome 2, 222294197: 222294197
24 PAX3 NM_181457.3(PAX3): c.241G> T (p.Gly81Cys) single nucleotide variant Uncertain significance rs483353059 GRCh37 Chromosome 2, 223161777: 223161777
25 PAX3 NM_181457.3(PAX3): c.241G> T (p.Gly81Cys) single nucleotide variant Uncertain significance rs483353059 GRCh38 Chromosome 2, 222297058: 222297058
26 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh37 Chromosome 2, 223161889: 223161889
27 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh38 Chromosome 2, 222297170: 222297170
28 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
29 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
30 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh37 Chromosome 13, 78492734: 78492734
31 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh38 Chromosome 13, 77918599: 77918599
32 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh37 Chromosome 2, 223158339: 223163411
33 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh38 Chromosome 2, 222293620: 222298692
34 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh38 Chromosome 2, 222202200: 222202200
35 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh37 Chromosome 2, 223066919: 223066919
36 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh38 Chromosome 2, 222220310: 222220310
37 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh37 Chromosome 2, 223085029: 223085029
38 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh37 Chromosome 2, 223086020: 223086020
39 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh38 Chromosome 2, 222221301: 222221301
40 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh38 Chromosome 2, 222221307: 222221307
41 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh37 Chromosome 2, 223086026: 223086026
42 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh38 Chromosome 2, 222232202: 222232202
43 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh37 Chromosome 2, 223096921: 223096921
44 PAX3 NM_181457.3(PAX3): c.525G> C (p.Lys175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116473352 GRCh38 Chromosome 2, 222294228: 222294228
45 PAX3 NM_181457.3(PAX3): c.525G> C (p.Lys175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116473352 GRCh37 Chromosome 2, 223158947: 223158947
46 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh37 Chromosome 2, 223161687: 223161687
47 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh38 Chromosome 2, 222296968: 222296968
48 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh37 Chromosome 2, 223161862: 223161862
49 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh38 Chromosome 2, 222297143: 222297143
50 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69936619: 69965326

Expression for Waardenburg Syndrome, Type 1

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 1.

Pathways for Waardenburg Syndrome, Type 1

Pathways related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11 MITF PAX3
2 10.93 MITF PAX3 SNAI2 SOX10
3 10.88 EDN3 EDNRB
4 10.74 MITF PAX3 SOX10

GO Terms for Waardenburg Syndrome, Type 1

Biological processes related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 EDNRB MITF SNAI2 WFS1
2 multicellular organism development GO:0007275 9.83 EDN3 EYA4 MITF PAX3 SNAI2
3 negative regulation of apoptotic process GO:0043066 9.78 EDNRB MITF SNAI2 SOX10
4 inner ear development GO:0048839 9.51 EYA4 GJB2
5 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.49 EYA4 SNAI2
6 peripheral nervous system development GO:0007422 9.46 EDNRB SOX10
7 neural crest cell migration GO:0001755 9.43 EDN3 EDNRB SOX10
8 vasoconstriction GO:0042310 9.4 EDN3 EDNRB
9 enteric nervous system development GO:0048484 9.37 EDNRB SOX10
10 sensory perception of sound GO:0007605 9.35 EYA4 GJB2 PAX3 SNAI2 WFS1
11 pigmentation GO:0043473 9.33 EDNRB MITF SNAI2
12 vein smooth muscle contraction GO:0014826 9.32 EDN3 EDNRB
13 melanocyte differentiation GO:0030318 8.92 EDN3 EDNRB MITF SOX10

Molecular functions related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.62 MITF SNAI2

Sources for Waardenburg Syndrome, Type 1

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